AI Article Synopsis
- A 45-year-old woman experienced persistent high calcium levels after undergoing parathyroid surgery.
- She was later diagnosed with familial hypocalciuric hypercalcemia due to low calcium in her urine and a family history of similar symptoms.
- Genetic testing revealed a variant in the CASR gene, marking the first report of this condition in a Chilean family.
Article Abstract
We report a 45-year-old woman with persistent post-parathyroidectomy PTH-dependent asymptomatic hypercalcemia who, after evaluation in our bone clinic, was diagnosed as having familial hypocalciuric hypercalcemia based on concomitant hypocalciuria and a family history of asymptomatic hypercalcemia. Genetic study shows a variant of uncertain significance in the CASR gene. To our knowledge, this is the first report on a Chilean family with HHF.
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| http://dx.doi.org/10.4067/s0034-98872024000300407 | DOI Listing |
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